What Is a Neurological Deficit?

Congenital diseases of the nervous system (nerve developmental disorders) are diseases that occur in the central nervous system, peripheral nervous system, and autonomic nervous system, and are characterized by sensory, motor, conscious, and autonomic dysfunctions. Diseases that occur at skeletal and neuromuscular junctions are often not easily distinguishable from those caused by damage to the nervous system itself. It is a group of embryos, especially in the first three months of pregnancy. The nervous system is in a vigorous stage of development. The fetus is affected by various pathogenic factors in the internal and external environment of the mother. The early fetus is especially damaged by teratogenic factors in the first three months. The causes are common infections, drugs, radiation, pregnant women with diabetes, severe anemia, or carbon monoxide poisoning. In addition, congenital factors are sometimes difficult to distinguish from acquired factors (such as asphyxia during delivery and metabolic disorders during the neonatal period). Fetuses with congenital defects are also susceptible to adverse environmental factors during and during the postpartum period.

Basic Information

nickname

Nervous system dysplasia

English name

congenital disease of the nervous system

English alias

developmental diseases of the nervous system

Visiting department

neurosurgery

Multiple groups

fetus

Common locations

Central nervous system, peripheral nervous system, autonomic nervous system

Common causes

The etiology is not completely clear. It may be that the fetus is affected by teratogenic factors in the early fetus, especially the first three months of the embryonic development.

Common symptoms

Skull and spine deformities, neural tissue developmental defects, congenital myopathy, metabolic dysfunction, speech dysfunction, etc.

Contagious

no

Congenital diseases of the nervous system

The etiology is not completely clear. It may be that the fetus is affected by teratogenic factors in the early fetus, especially the first three months of the embryonic development. Congenital diseases of the nervous system are mainly divided into two categories according to their etiology.

The first is the developmental disorders of the brain and nervous system in the uterus. Some neurons produce migration and tissue abnormalities, which lead to deformities of the skull, neural tissue, and covering capsules and mental retardation after birth. The main reasons may be hereditary and some environmental factors. Embryo or fetus;

The other type is caused by asphyxia due to birth injury during delivery. Due to excessive compression of the head or prolonged hypoxia, the brain tissue is damaged and abnormally developed. In the end, the damaged structure and dysfunctional brain need to be accompanied by children throughout their lives. Receive lifelong wisdom and functional correction therapy. In addition, congenital factors are sometimes difficult to distinguish from congenital causes such as birth injury, asphyxia, and metabolic disorders during the neonatal period, but fetuses with congenital defects are more susceptible to adverse environmental factors during or during the postpartum period.

The embryonic stage, especially the first 3 months of pregnancy, is in a period of vigorous development. The fetus is susceptible to a variety of pathogenic factors in the internal and external environment of the mother to cause symptoms. It can appear at birth or gradually during the development of the nervous system after birth. disease. The difference with hereditary diseases is that the cause is more of an autonomic or environmental factor, and the latter is determined by genetic genes.

Clinical manifestations of congenital diseases of the nervous system

Congenital diseases of the nervous system can be roughly divided into the following types clinically. In addition to structural abnormalities, they are often accompanied by dysfunction and significant mental (intelligent) developmental delay.

Skull and spine deformities

(1) Neural tube closure defects Skull fractures, spina bifida, and related malformations are more common, but the mild ones show no symptoms and have not been found.

(2) Cerebrospinal fluid system developmental disorders Midbrain aqueduct atresia, lateral ventricle atresia in the fourth ventricle. Obstruction of cerebrospinal fluid circulation causes congenital hydrocephalus.

(3) Other cranial spinal deformities, cranial stenosis, occipital foramen deformity, microcephaly, congenital skull defect, multiple osteodystrophy (also known as fatty cartilage dystrophy, Hurler syndrome), due to congenital adhesions Defects caused by polysaccharide metabolism. The incomplete ossification of the clavicle and skull is a rare hereditary syndrome. The ossification of the midline of the skull is delayed, and the anterior condylar frontal and sagittal sutures are not closed for a long time. The bilateral clavicle is completely or partially missing. The spine also often has flexion deformities . The clinical manifestations are short stature, wide and flat head, increased shoulder adduction, spastic limb paralysis, and mental retardation. Excessive widening of the eye distance is also a rare craniofacial deformity. The wing of the sphenoid bone widens and the wing of the sphenoid bone shrinks. Clinical manifestations include a flat skull with a flat, flat nose, increased distance between the eyes, strabismus, and hypoplasia.

2. Neural tissue developmental defects

(1) Agenesis of the cerebral cortex Widening of the cerebral gyrus The texture of the cerebral cortex is simple, the sulci are reduced, and the brain gyrus is widened. The cortical structure is often only four layers. Narrow brain gyrus Part of the cortex is complicated in texture, with increased sulci, shallow cortex showing scattered nodules, uneven nerve cell size, and reduced dendrites. Atrophic sclerosis of the brain lobe Local or diffuse brain atrophy hardens, degeneration of neurons, glial cell proliferation. Nerve cell ectopic The abnormal migration process of embryonic nerve cells, the occurrence of ectopic neurons, the appearance of immature nerve cells in the white matter, or the appearance is normal, and the number of nerve cells is sparsely arranged and the glial fibers increase.

(2) Congenital cerebral perforation malformation is a developmental defect of the local cortex. The ventricles are open to the surface, such as a funnel, and the wall is a cortex with a pia mater. Often occurs bilaterally symmetrically.

(3) Congenital acrocephalic hydrocephalus is a cystic degeneration of the brain during development. The two hemispheres of the brain in the cranial cavity are completely or mostly missing, and one or both of the single lobe is missing, such as the temporal lobe The place where it lives is replaced by an arachnoid sac, which is filled with cerebrospinal fluid. The skull and brain stem developed normally, but due to the long-term pulsation compression of the cyst, the local skull could become thin and deformed. The patient had a large head, widened anterior and posterior condyles, and bone sutures, and was mostly lethargic, with poor performance in sucking and swallowing. The light transmission test showed that the cyst area had positive light transmission.

(4) Anencephaly is a complete absence of the brain, and the scalp and skull are also missing. Only the basal nucleus is covered by fibrous connective tissue. The baby cannot survive after birth and will soon die.

(5) Giant brain malformations manifested a large head, increased brain volume symmetry, and increased number of neurons, but the correspondingly narrow ventricles, often accompanied by mental retardation.

(6) Agenesis of the corpus callosum The corpus callosum is completely or partially missing, often accompanied by other malformations, such as hydrocephalus, microcephaly, and intracranial congenital lipoma. Symptoms may not appear clinically, and may be manifested as epilepsy and / or mental retardation. Air-brain angiography showed that the distance between the anterior horns of the lateral ventricle was significantly widened and the third ventricle enlarged.

(7) Congenital bilateral hand and foot asthma, also known as Vogt syndrome. The pathological feature is the increase of myelin fibers in the bilateral putamen and coronary nucleus, reduction of nerve cells and glial hyperplasia, which is called marble-like state. Occasional dysplasia of basal nucleus fibers is referred to as myelin hypoplasia. The cause may be fetal developmental disorders, birth trauma, or neonatal asphyxia. The child has stunted development, muscular tonicity, and several weeks to months after birth. Slow and involuntary movements of various parts of the body gradually appear. The ends of the limbs are more obvious. Difficulties in eating and swallowing often occur. Movements, torsion spasms, myoclonic movements, tremors, or simply tonicity. This disease can coexist with cerebral palsy and mental retardation, and can progress progressively. Stereotactic surgery may reduce symptoms.

(8) Congenital cerebellar hereditary ataxia.

(9) Congenital dysplasia.

3. Congenital myopathy

4. Neuroectodermal hypoplasia and nevus hamartoma

Also known as neurocutaneous syndrome, it is common neuroectodermal hypoplasia such as nodular sclerosis, multiple neurofibromatosis, Sturge-Weber syndrome, ataxia-capillary telangiectasia, and retinal cerebellar hemangioma disease. Others such as Wyburn-Mason syndrome (retinal hemangioma with hemangioma of the brainstem or spinal cord and syringomyelia), Bloch-Sulzberger syndrome (polymorphous skin pigmentation with microcephaly epilepsy, mental retardation, limb paralysis, And congenital heart disease, glaucoma), Sjgren-Larsson syndrome (congenital psoriasis with cerebral palsy and mental retardation), black acanthosis (cutaneous pigmentation and wart-like lesions with epilepsy and mental retardation) Etc. is a rare congenital neuroectodermal disease.

5. Metabolic dysfunction

6. Speech dysgenesis

(1) Congenital auditory aphasia . Although the patient's hearing and intelligence are normal, those who have severely impaired speech understanding to varying degrees cannot understand the speech etiology and often have a family genetic history.

(2) Patients with congenital visual aphasia have normal vision and intelligence, but cannot read, and often have anti-writing mistakes and family history when copying.

7. Intelligent hypoplasia caused by various causes

8. Cerebral palsy

9. Bilirubin encephalopathy

Congenital neurological examination

Examination of specific metabolites in pregnant women's blood or urine, such as the determination of methylmalonic acid in urine; analysis of amniotic fluid, determination of abnormal metabolites released by the fetus in amniotic fluid, such as adrenal genital syndrome can be checked for 17 ketosteroids; Or take fetal blood, villous cells, amniotic fluid cell culture, etc. under a fetal microscope, and measure the enzyme or other biochemical components for diagnosis. New technologies such as DNA recombination and DNA amplification enzyme-linked polymerization (PCR) can also be used.

Laboratory inspection

Routine examination of hematuria and stool; examination of cerebrospinal fluid; hemoimmunology.

2. Auxiliary inspection

(1) X-ray plain film, CT and MRI.

(2) Prenatal diagnosis Fetal amniotic fluid chromosome genetic examination.

Diagnosis of Congenital Nervous System

Cause diagnosis

(1) There is no specific diagnostic index for congenital diseases of the nervous system, which is mainly determined based on the clinical symptoms and signs of newborns and laboratory-assisted examination items.

(2) Differential diagnosis: Pay attention to differentiating from neurological damage caused by secondary diseases after birth.

2. Prenatal diagnosis

Congenital diseases of the nervous system are more common chromosomal diseases, neural tube defects and metabolic genetic diseases. Clinical manifestations are developmental abnormalities, intrauterine death of the embryo or fetus, leading to miscarriage, premature birth, stillbirth, stillbirth or neonatal death. Survivors show different deformities, dysfunction, and mental retardation. If prenatal judgments can be made on congenital diseases, the birth of the child can be prevented, which will greatly benefit the family and society.

(1) Prenatal diagnosis of neural tube defects Neural tube defects (NTD) refer to a group of central nervous system deformities caused by obstruction of the neural tube in the fetal period or reperforation due to other reasons, including no brain deformity and open spina bifida And brain bulge.

(2) Prenatal diagnosis of chromosome disease Most chromosome diseases have miscarriage, so they only account for about 5% of the total number of births, but the diagnosis rate is high, accounting for 25% to 50% of cases diagnosed prenatally. Target: Senior pregnant women over 35 years of age; children who have had chromosomal diseases; one of the couples is a chromosomal translocation carrier; children who have had NTD; pregnant women with multiple abortions, stillbirths and stillbirths of unknown causes; Children with sexual or metabolic diseases; those with severe sexually transmitted diseases in the family; long-term exposure to harmful substances to pregnant women and embryos (radiation, pesticides).

Diagnostic methods: Early villous slides, amniotic fluid cell culture, maternal blood, and fetal blood cells are analyzed for karyotypes to confirm the diagnosis. Conditional units can be diagnosed with new technologies such as DNA recombination, DNA gene amplification (PCR), and gene analysis.

(3) Prenatal diagnosis of metabolic genetic diseases. Metabolic genetic diseases are caused by mutations in genes on the chromosome, resulting in the absence or abnormality of enzymes. The catalytic process of an enzyme controlled by the original gene cannot proceed normally, and the metabolic process is disordered. And destruction, causing some substances to be deficient, and other substances to be accumulated in large quantities, thereby affecting the metabolism and development of the fetus. At present, more than 1,000 diseases have been found, most of which are recessive inheritance of autosomal, and few are X-linked recessive inheritance and autosomal dominant inheritance.

Congenital Nervous System Treatment

There are no effective therapies. Appropriate measures can be taken to help children improve neurological function and correct deformities, such as physical therapy, rehabilitation training, medication and surgery.